Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
LAMA2
(HGNC:6482)
LAMA2-related muscular dystrophy
(MONDO_0100228)
 Definitive
LAMA3
(HGNC:6483)
laryngo-onycho-cutaneous syndrome
(MONDO_0009513)
 Strong
LAMA3
(HGNC:6483)
junctional epidermolysis bullosa Herlitz type
(MONDO_0009182)
 Strong
LAMA2
(HGNC:6482)
muscular dystrophy, limb-girdle, autosomal recessive 23
(MONDO_0029136)
 Moderate
LAMA2
(HGNC:6482)
congenital merosin-deficient muscular dystrophy 1A
(MONDO_0011925)
 Definitive
AFF3
(HGNC:6473)
KINSSHIP syndrome
(MONDO_0851095)
 Strong
L1CAM
(HGNC:6470)
L1 syndrome
(MONDO_0017140)
 Definitive
AFF3
(HGNC:6473)
intellectual disability
(MONDO_0001071)
 Limited
L1CAM
(HGNC:6470)
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
(MONDO_0010611)
 Definitive
L1CAM
(HGNC:6470)
MASA syndrome
(MONDO_0010559)
 Definitive
KYNU GENE
(HGNC:6469)
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
 Moderate
KRT83
(HGNC:6460)
erythrokeratodermia variabilis
(MONDO_0017851)
 Limited
AR
(HGNC:644)
complete androgen insensitivity syndrome
(MONDO_0021023)
 Definitive
KRT81
(HGNC:6458)
monilethrix
(MONDO_0008009)
 Refuted
AR
(HGNC:644)
androgen insensitivity syndrome
(MONDO_0019154)
 Definitive
AR
(HGNC:644)
Kennedy disease
(MONDO_0010735)
 Definitive
AR
(HGNC:644)
partial androgen insensitivity syndrome
(MONDO_0010720)
 Strong
KRT5
(HGNC:6442)
epidermolysis bullosa simplex 2E, with migratory circinate erythema
(MONDO_0012258)
 Strong
KRT5
(HGNC:6442)
Dowling-Degos disease
(MONDO_0008371)
 Strong
KRT5
(HGNC:6442)
epidermolysis bullosa simplex 2F, with mottled pigmentation
(MONDO_0007556)
 Strong
Showing 1021–1040 of 6699